Mutation analysis in Japanese patients with congenital and infantile nephritic syndrome

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Mutations in each of the NPHS1, NPHS2, WT1, LAMB2, and PLEC1 genes have been implicated in nephrotic syndrome manifesting in the first year of life. The relative frequency of causative mutations in these genes in Japanese children with nephritic syndrome manifesting in the first year of life is unknown. Therefore, we analyzed all 5 of the genes in 96 patients from 96 families with nephrotic syndrome manifesting in the first year of life. We detected disease-causing mutations in 88. 9%(16 of 18) patients with congenital onset(0. 3 months) and 12. 8%(10 of 78) patients with infantile onset(4. 12 months) of nephrotic syndrome were explained by mutations. Infants with causative mutations in any of the 5 genes do not respond to steroid treatment ; therefore, unnecessary treatment attempts can be avoided.